Variant report

Variant	rs16860445
Chromosome Location	chr1:168334887-168334888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10465552	0.80[ASN][1000 genomes]
rs16860403	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs16860434	0.99[ASN][1000 genomes]
rs1886004	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076061	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2223293	0.99[ASN][1000 genomes]
rs2268561	0.99[ASN][1000 genomes]
rs2268563	0.92[ASN][1000 genomes]
rs2268565	0.92[ASN][1000 genomes]
rs2268566	0.92[ASN][1000 genomes]
rs2284758	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2284759	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2284760	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2284762	0.85[ASN][1000 genomes]
rs57956428	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59227453	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672853	0.80[ASN][1000 genomes]
rs7551330	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013200	chr1:168332730-168357759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168331200-168341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:168332600-168335200	Weak transcription	Fetal Heart	heart
3	chr1:168333000-168336000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:168333200-168340800	Weak transcription	Right Atrium	heart
5	chr1:168333600-168335000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:168334000-168335000	Weak transcription	HepG2	liver
7	chr1:168334000-168335200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:168334600-168335400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:168334800-168335400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:168334800-168336000	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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